Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1059 |
| RareLSD_Id | 1059 |
| ENZYME | Ribonuclease T2 |
| GENE | RNASET2 |
| E.C.NUMBER | 3.1.27.- |
| FAMILY | Rnase T2 |
| CYTOGENETICS | 6q27 |
| DISEASE | Cystic leukoencephalopathy without megalencephaly |
| SNP | rs1011904673,rs1044059,rs1047901021,rs11557915 |
| DEPOSIT | RSET2 glycoprotein |
| REF | 28658095, 3424803 |
| TEMP (in Celsius) | 22 |
| pI | 10 |
| pH | 4.66 |
| Catalytic Nucleophile | 2'OH |
| Catalytic Acid/Base | Glu58 (BASE) |
| Substrate | R + H2O |
| Product | NA |
| Structure(PDB/Phyre2_ID) | 3T0O |
| kM | NA |
| DRUG | NA |
| SEQ LENGTH | 256 |
| AA SEQ | MRPAALRGALLGCLCLALLCLGGADKRLRDNHEWKKLIMVQHWPETVCEKIQNDCRDPPDYWTIHGLWPDKSEGCNRSWPFNLEEIKDLLPEMRAYWPDVIHSFPNRSRFWKHEWEKHGTCAAQVDALNSQKKYFGRSLELYRELDLNSVLLKLGIKPSINYYQVADFKDALARVYGVIPKIQCLPPSQDEEVQTIGQIELCLTKQDQQLQNCTEPGEQPSPKQEVWLANGAAESRGLRVCEDGPVFYPPPKKTKH |
| MODIFICATION | N-linked Glycosylation:Asn76,Asn106,Asn212,Ubiquitination:Lys157 |
| INHIBITOR | Cu2+,Zn2+,poliovirus R |
| ACTIVE SITE RESIDUE | His65,Glu114,His118 |
| DISULPHIDE BRIDGES | *48-55,*75-121,*184-241,*202-213 |
| PSEUDOGENES | PGOHUM00000250933 |
| MISCELLANEOUS | NA |
| PARALOGS | ENSG00000249141 |
| MECHANISM | catalyzeds phophodiester cleavage |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Nervous System,Head,Ear,Eye |
| ENZYME LOCATION | NA |
| UniProt ID | O00584 |